Genetic counseling and testing 

Many individuals with typical family histories greatly overestimate their risk for breast cancer and may unnecessarily live with a disproportionate fear of developing the disease. Genetic counselors specializing in hereditary and familial cancer are trained in hereditary cancer risk assessment in individuals at high risk and can provide expert guidance.

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic cancer counseling integrates the following components:

  • Collection and documentation of a detailed family history of cancer 

  • Review of appropriate medical records 

  • Pedigree assessment and recognition of cancer susceptibility syndromes (includes all cancer types)

  • Calculation of hereditary cancer risk using risk assessment models

  • Explanation of inheritance pattern and implications for family members 

  • Assistance in exploring the medical and psychologic implications of genetic testing 

  • Review of costs, benefits, and limitations of genetic testing 

  • Provision of informed consent, including issues of privacy, confidentiality, and legal protections against genetic discrimination 

  • Assistance in obtaining insurance coverage for testing 

  • Selection of appropriate genetic testing and testing laboratory 

  • Determination of best strategy for testing within the family 

  • Interpretation of genetic test results

  • Provision of ongoing emotional support and assistance in informing family members 

  • Assistance in developing a plan for cancer screening and risk reduction, when appropriate 

  • Detailed summary letters sent to patients and their physicians 

  • Referrals to research and local and national support organizations, when appropriate 

Genetic counseling appointments typically last between 45 minutes and an hour. Interested family members are usually welcome to attend. The genetic counselor usually begins the appointment by listening to the patient’s goals, expectations, and concerns to understand how best to meet the patient’s needs. 

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Information about the family history is collected and documented either prior to or during the appointment. The counselor explains the basic principles of genetics and hereditary cancer, including what clues might indicate that the cancer seen within that family could be hereditary.

The patient and counselor review and assess the patient’s family history of cancer together. Many genetic counselors provide a numeric estimate of the likelihood that the patient will carry a gene mutation generated by a validated risk assessment tool. 

Genetic testing is discussed in detail, including whether testing is indicated for a particular patient, the most useful strategy for testing within the family, possible test results for the patient and the family, and insurance coverage. Many options for genetic testing are now available, ranging from analysis of a single gene mutation to testing dozens of genes simultaneously. The counselor reviews appropriate testing options and answers any questions that the patient has. 

Case #3

HH is a 44-year-old patient who presents to your office after a recent diagnosis of breast cancer. She decided to transfer her care to you because she made a recent move from another state. She reports that she has a sister, age 55, who was diagnosed with breast cancer at age 51. She also has an aunt on her paternal side, now in her 60s, who was diagnosed with breast cancer 1 year earlier. No one in HH’s family has had genetic counseling or testing, and HH does not know what genetic counseling is.

What should you do first?

  1. Recommend genetic testing to HH
  2. Recommend genetic testing of HH’s sister
  3. Recommend no genetic testing at this time
  4. Recommend that HH have genetic counseling

The best answer is D. You should recommend that HH have genetic counseling; she is an appropriate genetic testing candidate because she has breast cancer that was diagnosed at an early age.

You receive genetic testing results for HH, and you note that no mutations were detected. Given these results, what risk management recommendations should you make for your patient?

  1. Recommend risk-reducing bilateral salpingo-oophorectomy.
  2. Review recommendations for contralateral breast cancer risk, including prophylactic mastectomy and screening.
  3. Recommend genetic testing of HH’s sister.
  4. No recommendations should be made because the patient had negative test results and is not at high risk for another breast cancer.

The best answer is B. You should review the recommendations for contralateral breast cancer risk, including prophylactic mastectomy and screening. This is an important consideration, as the patient still may have an increased risk of breast cancer due to both her personal and family history, even though she had negative genetic test results. As a clinician, it is important to consider family history when making recommendations for contralateral breast cancer risk. You should also consider whether this is a family that is affected by only breast cancer or whether the family is affected by breast and ovarian cancer, as this may influence your recommendations for screening and prophylactic surgery.

Genetic testing can usually be performed on a blood or saliva specimen, and results are usually available in 1 to 5 weeks. Once the results of testing are available, the genetic counselor reviews them with the patient, either in person or by telephone. The genetic counselor discloses to the patient whether a gene mutation was found. In addition, the patient’s chance of developing cancer is discussed, and recommendations for screening and risk reduction are reviewed. If a gene mutation is found, the counselor offers assistance on how to discuss this information with family members and provides information about support groups, cancer gene registries, and other resources that may be helpful to the patient.